Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone-marrow cells or in peripheral blood cells. The X-ray picture showed spondylar and pelvic dysplasia. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin-6-sulfate. The genetic data are consistent with autosomal recessive inheritance.

Cerebrovascular disease (CVD) is a neurological medical emergency and one of the main causes of death worldwide; it is classified as ischemic or hemorrhagic. The disease is one of the most severe clinical events related to pregnancy due to thrombogenesis and thrombophilia; there is an incidence of 25 to 34 CVD per 100 thousand births. The current research reports two cases of stroke episode, one previous and another during pregnancy, as well as their associated complications. The first patient had hereditary thrombophilia caused by PAI 4G/5G polymorphism and previous stroke; however, she had regular pregnancy. The second patient had hereditary thrombophilia caused by protein C deficit, had a stroke during pregnancy, and preeclampsia in the first gestational semester; therefore, she was subjected to the cesarean section on the 35th week of pregnancy. Stroke episodes during pregnancy can be very aggressive because it can lead to death or disabilities, not only in the mother but also in the fetus. Based on the association between thrombotic processes and complications, prophylactic anticoagulant therapy is recommended for women with thrombophilia who had a stroke and/or certain adverse pregnancy outcomes, such as recurrent miscarriages.